ClinVar Miner

Submissions for variant NM_000096.4(CP):c.1012T>A (p.Cys338Ser)

dbSNP: rs769313989
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept of Medicine and Surgery, University of Milano-Bicocca RCV000584748 SCV000679750 pathogenic Deficiency of ferroxidase 2007-01-01 no assertion criteria provided clinical testing

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